Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

可靠性强化试验技术在某型伺服作动器研制中的适用性探索

目的探索可靠性强化试验技术在典型机电液一体化产品伺服作动器研制过程中的适用性。方法以某型伺服作动器为研究对象,从故障激发的角度对可靠性强化试验技术的应用进行可行性分析,在响应调查和应力分析的基础上,结合产品的工作特点设计适用于该类伺服作动器的可靠性强化试验方案,包含低温步进应力试验、高温步进应力试验、快速温度循环试验10个循环、振动步进应力试验(包含气锤式三轴向六自由度超高斯随机振动方式及电磁振动台随机振动方式)及综合环境应力试验5个循环,并依此进行试验。结果在快速温度循环试验及综合环境应力试验过程中,均有效地激发出了产品的漏油故障,与相似产品外场暴露的漏油故障模式相吻合。结论可靠性强化试验技术可有效地应用于典型机电液一体化产品伺服作动器的研制过程,设计的可靠性强化试验方案可有效地激发外场出现频率较高的故障,可作为该类产品研制的试验手段之一。     

空间站控制力矩陀螺微振动测试技术

目的分析控制力矩陀螺的微振动扰动特性。方法通过获取陀螺连接点对结构的扰振力输出、关键部位的微振动响应来获取产品的微振动扰动特性,通过隔振的方式对外部环境的干扰进行隔离,进而降低测试的背景噪声,通过运用高精度测试传感器来实现微小扰动力信号、加速度信号的测量,利用结构有限元法及单点激励多点响应的模态分析方法校核系统刚度,进而确定测试频率范围是否满足需求。结果可同时获得空间站控制力矩陀螺连接点处的输出扰振力、质心处的输出扰振力合力、合力矩以及关键部位的微振动响应,可有效隔离外部干扰,扰振力背景噪声的时域信号最大值可控制在0.07 N以内,RMS值在0.02 N以内,加速度信号的时域背景噪声最大值可控制在1.5 mg以内,RMS值在0.1 mg以内。可识别微小扰振信号,加速度传感器分辨率为5×10-5 grms,力传感器的测量分辨率为1×10-2 N,力矩测量分辨率小于1×10-2 N·m。测试频带在320 Hz以内。结论满足型号需求,并投入型号使用。     

Triploid fetus: An important consideration in the evaluation of very high maternal serum alpha-fetoprotein

Two patients referred for evaluation of very high maternal serum alpha-fetoprotein (10–20 multiples of the median) were carrying triploid fetuses with placentas showing features of partial hydatidiform mole. The diagnosis of fetal triploidy should be considered when there is a very high maternal serum alpha-fetoprotein and no ultrasound evidence of open neural tube defect, ventral wall defect, or any other explanation. Therefore, chromosomal analysis of amniotic fluid cells in such cases is essential.     

Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.     

Prenatal diagnosis for huntington's disease: A molecular and psychological study

Two linked probes were used to determine the Huntington's disease status of the fetus conceived by a woman affected with the condition. The fetus was found to be unaffected with a certainty of 97 per cent. The ethical issues associated with presymptomatic testing were avoided since the mother presented with initial symptoms of Huntington's disease, but other psychological and ethical issues arose. The concerns of an affected woman planning a pregnancy, and the dilemmas involved in decision-making regarding prenatal diagnosis and possible selective abortion were exposed and explored with the patient and her husband.     

Prenatal diagnosis of inborn errors in peroxisomal β-oxidation

In recent years, an increasing number of inherited diseases in man have been recognized in which there is an impairment in the peroxisomal β-oxidation of very-long-chain fatty acids. In general, these disorders are associated with severe neurological and physical abnormalities and death within the first years of life. In this paper we describe our experience with regard to the prenatal diagnosis of a number of different inborn errors of peroxisomal β-oxidation. Eleven pregnancies at risk were monitored by measuring very-long-chain fatty acid levels as well as very-long-chain fatty acid β-oxidation in cultured chorionic villous fibroblasts and/or amniotic fluid cells. Five affected fetuses were identified. It is concluded that prenatal diagnosis in this group of diseases can be done reliably using cultured chorionic villous fibroblasts or amniotic fluid cells.     

First-trimester diagnosis of an unusual case of α-mannosidosis

Chorionic villi obtained in the first trimester from a pregnancy at risk for α-mannosidosis were shown to have reduced α-mannosidase (EC 3.2.1.24) activity. The pregnancy was terminated and subsequent enzyme studies of the fetal tissues were consistent with the diagnosis of α-mannosidosis. Like the enzyme in the child's fibroblast, α-mannosidase of the chorionic villi from a pregnancy at risk for α-mannosidosis was activated by high substrate concentration and by Zn^{2 +}, and displayed a K_m value two-fold higher than normal. Our results confirm that chorionic villi can be used for early prenatal diagnosis of α-mannosidosis.     

Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.